Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UO Genetica Medica, |
RCV002319774 | SCV002588748 | likely pathogenic | Mandibulofacial dysostosis-microcephaly syndrome | 2022-11-03 | no assertion criteria provided | provider interpretation | The variant hits the splicing site damaging the function of the gene. It is absent in gnomAD and it has a "de novo" onset in the patient. |